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FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Mazel B, Delanne J, Garde A, Racine C, Bruel AL, Duffourd Y, Lopergolo D, Santorelli FM, Marchi V, Pinto AM, Mencarelli MA, Canitano R, Valentino F, Papa FT, Fallerini C, Mari F, Renieri A, Munnich A, Niclass T, Le Guyader G, Thauvin-Robinet C, Philippe C, Faivre L. Mazel B, et al. Among authors: bruel al. Am J Med Genet B Neuropsychiatr Genet. 2024 Mar 8:e32970. doi: 10.1002/ajmg.b.32970. Online ahead of print. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 38459409
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Malbos M, Wakeling E, Gautier T, Boespflug-Tanguy O, Busby L, Taylor-Miller T, Dudoignon B, Bokov P, Govin J, Grisval M, Rega A, Mourot De Rougemont MG, Aubriot-Lorton MH, Darmency V, Bensignor C, Houzel A, Huet F, Denommé-Pichon AS, Delanne J, Tran Mau-Them F, Bruel AL, Safraou H, Nambot S, Garde A, Philippe C, Duffourd Y, Vitobello A, Faivre L, Thauvin-Robinet C. Malbos M, et al. Among authors: bruel al. Clin Genet. 2024 May;105(5):555-560. doi: 10.1111/cge.14485. Epub 2024 Jan 29. Clin Genet. 2024. PMID: 38287449
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Ruault V, Burger P, Gradels-Hauguel J, Ruiz N; Xtraordinaire; Jamra RA, Afenjar A, Alembik Y, Alessandri JL, Arpin S, Barcia G, Bendová Š, Bruel AL, Charles P, Chatron N, Chopra M, Conrad S, Daire VC, Cospain A, Coubes C, Coursimault J, Delahaye-Duriez A, Doco M, Dufour W, Durand B, Engel C, Faivre L, Ferroul F, Fradin M, Frenkiel H, Fusco C, Garavelli L, Garde A, Gerard B, Germanaud D, Goujon L, Gouronc A, Ginglinger E, Goldenberg A, Hancarova M, Havlovicová M, Heron D, Isidor B, Marçais NJ, Keren B, Koch-Hogrebe M, Kuentz P, Lamure V, Lebre AS, Lecoquierre F, Lehman N, Lesca G, Lyonnet S, Martin D, Mignot C, Neuhann TM, Nicolas G, Nizon M, Petit F, Philippe C, Piton A, Pollazzon M, Prchalová D, Putoux A, Rio M, Rondeau S, Rossi M, Sabbagh Q, Saugier-Veber P, Schmetz A, Steffann J, Thauvin-Robinet C, Toutain A, Them FTM, Trimarchi G, Vincent M, Vlčková M, Wieczorek D, Willems M, Yauy K, Zelinová M, Ziegler A; GENIDA Project; Chaumette B, Sadikovic B, Mandel JL, Geneviève D. Ruault V, et al. Among authors: bruel al. Mol Genet Genomic Med. 2024 Jan;12(1):e2363. doi: 10.1002/mgg3.2363. Mol Genet Genomic Med. 2024. PMID: 38284452 Free PMC article.
Treatments for cough and common cold in children.
Gill PJ, Onakpoya IJ, Buchanan F, Birnie KA, Van den Bruel A. Gill PJ, et al. Among authors: van den bruel a. BMJ. 2024 Jan 25;384:e075306. doi: 10.1136/bmj-2023-075306. BMJ. 2024. PMID: 38272497 No abstract available.
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.
Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, Maraval J, Bruel AL, Them FTM, Haack TB, Grasshoff U, Horber V, Schot R, van Slegtenhorst M, Wilke M, Barakat TS. Albuainain F, et al. Among authors: bruel al. Eur J Hum Genet. 2024 Mar;32(3):350-356. doi: 10.1038/s41431-023-01530-6. Epub 2024 Jan 10. Eur J Hum Genet. 2024. PMID: 38200082 Free PMC article.
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Hannes L, Atzori M, Goldenberg A, Argente J, Attie-Bitach T, Amiel J, Attanasio C, Braslavsky DG, Bruel AL, Castanet M, Dubourg C, Jacobs A, Lyonnet S, Martinez-Mayer J, Pérez Millán MI, Pezzella N, Pelgrims E, Aerden M, Bauters M, Rochtus A, Scaglia P, Swillen A, Sifrim A, Tammaro R, Mau-Them FT, Odent S, Thauvin-Robinet C, Franco B, Breckpot J. Hannes L, et al. Among authors: bruel al. Genet Med. 2024 Apr;26(4):101059. doi: 10.1016/j.gim.2023.101059. Epub 2023 Dec 27. Genet Med. 2024. PMID: 38158857
Transitory Activation and Improved Transition from Erosion to Formation within Intracortical Bone Remodeling in Hypoparathyroid Patients Treated with rhPTH(1-84).
van Dijk Christiansen P, Sikjær T, Andreasen CM, Thomsen JS, Brüel A, Hauge EM, Delaisse JM, Rejnmark L, Andersen TL. van Dijk Christiansen P, et al. Among authors: bruel a. JBMR Plus. 2023 Nov 17;7(12):e10829. doi: 10.1002/jbm4.10829. eCollection 2023 Dec. JBMR Plus. 2023. PMID: 38130746 Free PMC article. Clinical Trial.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, Chatron N, Chrzanowska K, Codina-Solà M, Colson C, Cuscó I, Denommé-Pichon AS, Edery P, Faivre L, Green A, Heide S, Hsieh TC, Hustinx A, Kleinendorst L, Knopp C, Kraft F, Krawitz PM, Lasa-Aranzasti A, Lesca G, López-González V, Maraval J, Mignot C, Neuhann T, Netzer C, Oehl-Jaschkowitz B, Petit F, Philippe C, Posmyk R, Putoux A, Reis A, Sánchez-Soler MJ, Suh J, Tkemaladze T, Tran Mau Them F, Travessa A, Trujillano L, Valenzuela I, van Haelst MM, Vasileiou G, Vincent-Delorme C, Walther M, Verde P, Bramswig NC, Wieczorek D. Schmetz A, et al. Among authors: bruel al. Hum Genet. 2024 Jan;143(1):71-84. doi: 10.1007/s00439-023-02622-5. Epub 2023 Dec 20. Hum Genet. 2024. PMID: 38117302
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